QuyenAnhDE/medical huggingface dataset:
Pfeiffer syndrome
Definition: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Synonyms: acrocephalosyndactylia type V
FG syndrome
Definition: An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
Synonyms: Opitz-Kaveggia syndrome
centronuclear myopathy
Definition: A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
Synonyms: myotubular myopathy
type I Ehlers-Danlos syndrome
Synonyms: Ehlers-Danlos syndrome, type 1 (disorder)
beta-ketothiolase deficiency
Synonyms: peroxisomal thiolase deficiency (disorder)
autosomal dominant microcephaly
dominant cogenital severe sensorineural deafness
Weaver syndrome
Synonyms: Weaver-Williams syndrome
hereditary angioedema
Synonyms: Hereditary angioneurotic edema (disorder)
craniofrontonasal syndrome
Synonyms: craniofrontonasal dysplasia
progressive high-tone neural deafness
aggressive periodontitis
Definition: A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
Synonyms: juvenile periodontitis
trichorhinophalangeal syndrome type I
Definition: An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
Synonyms: type III trichorhinophalangeal syndrome
Partington syndrome
Definition: A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. [PMID:23622180, url:http://ghr.nlm.nih.gov/condition/partington-syndrome]
Synonyms: X-linked Russell-Silver syndrome
Sotos syndrome
Definition: An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
Synonyms: cerebral gigantism
methylmalonic acidemia
Definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
Synonyms: METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B
lymphangioma
Synonyms: Congenital lymphangioma
isovaleric acidemia
Definition: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Synonyms: Isovaleryl-CoA dehydrogenase deficiency (disorder)
argininosuccinic aciduria
Definition: An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.
Synonyms: deficiency of argininosuccinate lyase (disorder)
autosomal dominant type IV Ehlers-Danlos syndrome
type III Ehlers-Danlos syndrome
Synonyms: Ehlers-Danlos syndrome, type 3 (disorder)
autosomal recessive type IV Ehlers-Danlos syndrome
Synonyms: Ehlers-Danlos syndrome, recessive type 4 (disorder)
Greig cephalopolysyndactyly syndrome
Definition: An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
Synonyms: polysyndactyly with peculiars skull shape
calcaneonavicular coalition
Definition: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
Synonyms: SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
Larsen syndrome
Definition: An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
Synonyms: dominant larsen syndrome
renal agenesis
Synonyms: renal aplasia
Saethre-Chotzen syndrome
Definition: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
Synonyms: acrocephalosyndactyly type III RELATED []
cartilage-hair hypoplasia
Synonyms: Metaphyseal chondrodysplasia, McKusick type
type VI Ehlers-Danlos syndrome
Synonyms: Kyphoscoliosis type
benign familial neonatal epilepsy
Synonyms: familial neonatal seizures (disorder)
blepharophimosis, ptosis, and epicanthus inversus syndrome
Synonyms: Blepharophimosis, ptosis, epicanthus inversus syndrome RELATED []
KBG syndrome
Definition: A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
olivopontocerebellar atrophy
Definition: A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
Synonyms: WADIA-SWAMI SYNDROME
Fryns syndrome
spondyloepiphyseal dysplasia congenita
Synonyms: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
Leber congenital amaurosis
Definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Synonyms: Leber's disease
hypohidrotic ectodermal dysplasia
Definition: A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
Synonyms: Hypohidrotic X-linked ectodermal dysplasia (disorder)
Dubowitz Syndrome
Definition: A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Synonyms: Dubowitz's syndrome (disorder)
Blount's disease
Definition: An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
Synonyms: familial infantile type osteochondrosis deformans tibiae
gingival disease
Synonyms: Gingival disease (disorder)
cystic fibrosis
Definition: An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Synonyms: mucoviscidosis
secondary syphilitic chorioretinitis
Synonyms: Syphilitic chorioretinitis (secondary)
secondary syphilitic uveitis
Synonyms: Uveitis due to secondary syphilis (disorder)
corneal anesthesia and hypoesthesia
eye and adnexa disease
Definition: A sensory system disease that is located_in the eye or the adnexa of the eye.
cystic echinococcosis
Definition: An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
Synonyms: Unspecified echinococcus granulosus (disorder)
echinococcosis
Definition: A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
Synonyms: pulmonary echinococcosis
cholera
Definition: A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
Synonyms: Cholera due to Vibrio cholerae
Vibrio infectious disease
Synonyms: vibriosis
reproductive system disease
Definition: A disease of anatomical entity that is located_in reproductive system organs.
Synonyms: genital system disease
disease of mental health
Definition: A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
candidiasis
Definition: An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
Synonyms: systemic candidiasis
avoidant personality disorder
Definition: A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.
Synonyms: anxious personality disorder
personality disorder
Definition: A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
Synonyms: character disorder
residual schizophrenia chronic state with acute exacerbation
chronic gonorrhea of cervix
Synonyms: Gonococcal cervicitis, chronic
chronic cervicitis
mitral valve syphilitic endocarditis
Synonyms: Syphilitic endocarditis of mitral valve (disorder)
syphilitic endocarditis
Synonyms: Syphilitic endocarditis (disorder)
cecal benign neoplasm
Definition: An intestinal benign neoplasm that is located_in the cecum.
Synonyms: neoplasm of caecum
cecal disease
Definition: An intestinal disease located_in the cecum.
Synonyms: disorder of cecum (disorder)
cecum carcinoma
Definition: A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Synonyms: Cecal cancer
colon carcinoma
Definition: A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Synonyms: Colonic carcinoma
cecum cancer
Definition: A large intestine cancer that is located_in the cecum.
Synonyms: malignant tumor of the cecum
cecum lymphoma
Synonyms: Cecal Lymphoma
colon lymphoma
Synonyms: Colonic Lymphoma
nodular nonsuppurative panniculitis
Synonyms: Weber-Christian disease
panniculitis
penile non-neoplastic disease
penile disease
fibroepithelial neoplasm
Definition: A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue.
Synonyms: Fibroepithelial tumor (qualifier value)
male non-neoplastic reproductive system disease
pleural disease
Definition: A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism.
Synonyms: non-neoplastic pleural disease
mixed cell type cancer
Definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from two germinal layers of tissue.
Synonyms: mixed tumor, malignant, NOS (morphologic abnormality)
parathyroid carcinoma
Definition: An endocrine gland cancer located_in the parathyroid glands located in the neck.
Synonyms: parathyroid neoplasm
head and neck carcinoma
Definition: A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
Synonyms: carcinoma of the neck
metastatic neoplasm of parathyroid
Synonyms: metastatic tumor of Parathyroid
glandular and epithelial neoplasm
gestational diabetes complicating pregnancy, childbirth, or the puerperium
Synonyms: Diabetes mellitus, postpartum
vibratory urticaria
urticaria
Definition: A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
arthus reaction
Synonyms: Arthus type urticaria
hypersensitivity reaction type III disease
Synonyms: immune complex disease
angioedema
Definition: A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
Synonyms: Quincke's edema
cognitive disorder
Definition: A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
Synonyms: Organic Mental disorder RELATED [NCI2004_11_17:C34870]
chromoblastomycosis
Definition: A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
Synonyms: Mossy foot disease (disorder)
dermatomycosis
Definition: A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.
fungal infectious disease
Definition: A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.
Synonyms: mycosis
calculus of gallbladder and bile duct with acute and chronic cholecystitis
Synonyms: calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction
mechanical ectropion
epithelial carcinoma
Definition: A carcinoma that derives_from the cells that line an organ.
Synonyms: tumor of surface epithelium (disorder)
ectropion
Synonyms: Everted margin
spastic ectropion
normal pressure hydrocephalus
Synonyms: Normal pressure hydrocephalus (disorder)
communicating hydrocephalus
Synonyms: Communicating hydrocephalus (disorder) [Ambiguous]
alcohol abuse
Definition: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Synonyms: Ethanol abuse
rheumatic disease
Definition: A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
limited scleroderma
Synonyms: systemic sclerosis, limited
pulmonary systemic sclerosis
Synonyms: lung involvement in systemic sclerosis
respiratory system disease
Definition: A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
diffuse scleroderma
Synonyms: systemic sclerosis, diffuse (disorder)
laryngeal tuberculosis
Definition: A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.
acute chest syndrome
Definition: A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
Synonyms: acute chest syndrome in sickle cell disease
rheumatic pneumonia
Synonyms: Rheumatic pneumonia (disorder)
rheumatic fever
Synonyms: RhF - Rheumatic fever
thrombocytopenia due to platelet alloimmunization
Synonyms: Thrombocytopenia Due to Immune Destruction
thrombocytopenia
Definition: A blood platelet disease characterized by low a platelet count in the blood.
mesothelial neoplasm
Synonyms: Mesothelial tumor morphology (qualifier value)
renovascular hypertension
Synonyms: Renovascular hypertension (disorder)
secondary malignant neoplasm of retroperitoneum and peritoneum
Synonyms: secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder)
metastasis to the peritoneum
Synonyms: secondary malignant neoplasm of the peritoneum (disorder)
endogenous depression
Definition: A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system.
Synonyms: unipolar depression
mental depression
single episode mild major depression
Synonyms: Single major depressive episode, mild (disorder)
single episode moderate major depression
Synonyms: Single major depressive episode, moderate (disorder)
integumentary system disease
Definition: A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
lymphadenitis
Synonyms: Lymphadenitis NOS (disorder)
hypoglycemic coma
Synonyms: Hypoglycemic coma NOS (disorder)
keratosis
Definition: A skin disease characterized_by growth of keratin on the skin or mucous membranes.
breast cancer
Definition: A thoracic cancer that originates in the mammary gland.
Synonyms: primary breast cancer
male breast cancer
Synonyms: neoplasm of male breast (disorder)
benign eccrine breast spiradenoma
Synonyms: benign Eccrine breast Spiradenoma
breast fibroadenoma
Definition: A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Synonyms: juvenile fibroadenoma of breast
cancer
Definition: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. [stedman:rlc, url:http://en.wikipedia.org/wiki/cancer, url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer]
Synonyms: primary cancer
breast fibroepithelial tumor
breast leiomyoma
breast soft tissue tumor
breast adenoma
Synonyms: Ademoma - breast
breast duct papilloma
Synonyms: papilloma of the breast
intraductal papilloma
Synonyms: Intraductal papilloma (morphologic abnormality)
intraductal papillary breast neoplasm
breast myofibroblastoma
mucoepidermoid tumor
Synonyms: Mucoepidermoid tumor [obs]
benign breast phyllodes tumor
Synonyms: Phyllodes tumor, benign (morphologic abnormality)
breast papillomatosis
Synonyms: papillomatosis of the breast
breast angiomatosis
central nervous system tuberculosis
Definition: An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
Synonyms: tuberculous abscess of brain
skeletal tuberculosis
Definition: An extrapulmonary tuberculosis that results in formation of lesions located_in bone.
Synonyms: osteoarticular tuberculosis
cystic, mucinous, and serous neoplasm
Synonyms: cystic, mucinous and serous tumor (qualifier value)
benign breast adenomyoepithelioma
Synonyms: benign Adenomyoepithelioma of the breast
breast adenomyoepithelioma
Definition: A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.
Synonyms: malignant adenomyoepithelioma of breast
female breast upper-inner quadrant cancer
Synonyms: malignant neoplasm of upper-inner quadrant of female breast (disorder)
female breast lower-inner quadrant cancer
Synonyms: malignant neoplasm of lower-inner quadrant of female breast (disorder)
female breast axillary tail cancer
Synonyms: malignant neoplasm of axillary tail of female breast (disorder)
ventricular septal defect
Definition: A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
Synonyms: Ventricular septal abnormality
supratentorial cancer
Definition: A brain cancer that is located_in the supratentorial region.
Synonyms: malignant Supratentorial tumor
melanotic neuroectodermal tumor
Synonyms: Pigmented neuroectodermal tumour of infancy
malignant pineal area germ cell neoplasm
Synonyms: Pineal Region germ cell tumor
malignant intracranial germ cell neoplasm
pineoblastoma
Definition: A pineal gland neoplasm located_in the brain.
Synonyms: Pineal PNET
central nervous system embryonal cancer
Definition: An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord.
Synonyms: embryonal tumor of the CNS
hip enthesopathy
Synonyms: Hip enthesopathy, unspecified (disorder)
peripheral enthesopathy
Behcet's syndrome arthropathy
Synonyms: Behcet syndrome arthropathy
spontaneous tension pneumothorax
pneumothorax
low implantation of placenta
chronic interstitial cystitis
cystitis
chronic cystitis
heart septal defect
Synonyms: Septal defect NOS (disorder)
congenital heart disease
Synonyms: Heart-congenital defect RELATED [SNOMEDCT_2005_07_31:156911006]
glaucoma associated with vascular disorder
neovascular glaucoma
Synonyms: secondary angle-closure glaucoma with rubeosis
neuroendocrine tumor
Definition: An endocrine gland cancer that has_material_basis_in neuroendocrine cells.
Synonyms: neuroendocrine neoplasm
congenital ichthyosis
Synonyms: Ichthyosis congenita NOS (disorder)
ichthyosis
Synonyms: ichthyoses
congenital ichthyosiform erythroderma
Synonyms: nonbullous congenital ichthyosiform erythroderma
musculoskeletal system disease
Definition: A disease of anatomical entity that occurs in the muscular and/or skeletal system.
endocrine gland cancer
Definition: An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
Synonyms: neoplasm of endocrine system (disorder)
X-linked ichthyosis
Synonyms: X-linked recessive ichthyosis
steroid inherited metabolic disorder
Definition: A lipid metabolism disorder that involves defects in steroid metabolism.
ichthyosis vulgaris
Synonyms: Dominant congenital ichthyosiform erythroderma (disorder)
Richter's syndrome
Synonyms: Richter syndrome
rickettsiosis
Synonyms: tick-borne rickettsiosis
neuroectodermal tumor
Synonyms: primitive Neuroectodermal neoplasm
aortic valve stenosis
Definition: An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
Synonyms: rheumatic aortic valve stenosis
benign shuddering attacks
clear cell acanthoma
Synonyms: Pale (Clear cell) acanthoma
duodenal ulcer
Synonyms: Stress ulcer NOS
peritoneum cancer
Definition: An organ system cancer that is located in the peritoneum.
Synonyms: peritoneal neoplasm RELATED []
partial of retinal vein occlusion
Synonyms: Partial Retinal Vein Occlusion
retinal vein occlusion
Synonyms: Retinal vein occlusion
retinal vascular occlusion
Synonyms: Unspecified retinal vascular occlusion (disorder)
eccrine sweat gland neoplasm
Synonyms: Eccrine tumor
histoplasmosis pneumonia
Definition: A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain.
Synonyms: Pneumonia with histoplasmosis (disorder)
histoplasmosis
Definition: A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains.
Synonyms: reticuloendotheliosis
cryptosporidiosis
Definition: A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Synonyms: intestinal cryptosporidiosis